Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:protein
|
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
gptkb:neurofibromatosis_type_1
|
| gptkbp:discoveredIn |
1990
|
| gptkbp:encodedBy |
gptkb:NF1_gene
|
| gptkbp:Entrez_Gene_ID |
4763
ENSG00000196712 |
| gptkbp:expressedIn |
gptkb:nervous_system
various tissues |
| gptkbp:foundIn |
gptkb:Homo_sapiens
|
| gptkbp:function |
gptkb:tumor_suppressor
gptkb:Ras_GTPase-activating_protein |
| gptkbp:interactsWith |
gptkb:Ras_proteins
|
| gptkbp:length |
2818 amino acids
|
| gptkbp:locatedOnChromosome |
gptkb:17q11.2
|
| gptkbp:molecularWeight |
~320 kDa
|
| gptkbp:mutationAssociatedWith |
increased risk of tumors
|
| gptkbp:OMIM |
613113
|
| gptkbp:PDB |
6V65
|
| gptkbp:UniProtID |
P21359
|
| gptkbp:bfsParent |
gptkb:NF1
gptkb:NF1_gene |
| gptkbp:bfsLayer |
7
|
| https://www.w3.org/2000/01/rdf-schema#label |
Neurofibromin 1
|